Linked Data
ClinVar Variation Id:
216311
dbSNP Id:
rs730881801
ExAC:
2:48028226 G / A
gnomAD v2:
2-48028226-G-A
gnomAD v3:
2-47801087-G-A
gnomAD v4:
2-47801087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47801087G>A , CM000664.2:g.47801087G>A | GRCh38 |
| NC_000002.11:g.48028226G>A , CM000664.1:g.48028226G>A | GRCh37 |
| NC_000002.10:g.47881730G>A | NCBI36 |
| NG_007111.1:g.22941G>A , LRG_219:g.22941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2807G>A (MSH6) | ENSP00000406248.2:p.Arg936Gln | |
| ENST00000420813.6:c.2807G>A (MSH6) | ENSP00000390382.2:p.Arg936Gln | |
| ENST00000455383.6:c.2807G>A (MSH6) | ENSP00000397484.2:p.Arg936Gln | |
| ENST00000700004.2:c.3104G>A (MSH6) | ENSP00000514752.2:p.Arg1035Gln | |
| ENST00000699999.1:n.3188G>A (MSH6) | ||
| ENST00000700000.1:c.1606+1498G>A (MSH6) | ENSP00000514749.1:n.1606+1498G>A | |
| ENST00000700002.1:c.3110G>A (MSH6) | ENSP00000514750.1:p.Arg1037Gln | |
| ENST00000700003.1:c.628-2333G>A (MSH6) | ENSP00000514751.1:n.628-2333G>A | |
| ENST00000700004.1:c.2261G>A (MSH6) | ENSP00000514752.1:p.Arg754Gln | |
| ENST00000234420.11:c.3104G>A (MSH6) MANE Select | ENSP00000234420.5:p.Arg1035Gln | |
| ENST00000540021.6:c.2714G>A (MSH6) | ENSP00000446475.1:p.Arg905Gln | |
| ENST00000652107.1:c.2807G>A (MSH6) | ENSP00000498629.1:p.Arg936Gln | |
| ENST00000673637.1:c.2807G>A (MSH6) | ENSP00000501310.1:p.Arg936Gln | |
| ENST00000234420.9:c.3104G>A (MSH6) | ENSP00000234420.4:p.Arg1035Gln | |
| ENST00000405808.5:c.169+7108C>T (FBXO11) | ENSP00000385127.1:n.169+7108C>T | |
| ENST00000434234.5:c.*124+6907C>T (FBXO11) | ENSP00000402692.1:n.*124+6907C>T | |
| ENST00000445503.5:c.*2451G>A (MSH6) | ENSP00000405294.1:n.*2451G>A | |
| ENST00000538136.1:c.2198G>A (MSH6) | ENSP00000438580.1:p.Arg733Gln | |
| ENST00000540021.5:c.2714G>A (MSH6) | ENSP00000446475.1:p.Arg905Gln | |
| ENST00000614496.4:c.2198G>A (MSH6) | ENSP00000477844.1:p.Arg733Gln | |
| ENST00000616033.4:c.3101G>A (MSH6) | ENSP00000480261.1:p.Arg1034Gln | |
| ENST00000622629.4:c.8G>A (MSH6) | ENSP00000482078.1:p.Arg3Gln | |
| NM_000179.2:c.3104G>A , LRG_219t1:c.3104G>A (MSH6) | NP_000170.1:p.Arg1035Gln | |
| NM_001281492.1:c.2714G>A (MSH6) | NP_001268421.1:p.Arg905Gln | |
| NM_001281493.1:c.2198G>A (MSH6) | NP_001268422.1:p.Arg733Gln | |
| NM_001281494.1:c.2198G>A (MSH6) | NP_001268423.1:p.Arg733Gln | |
| XM_005264271.1:c.2807G>A (MSH6) | XP_005264328.1:p.Arg936Gln | |
| XM_011532798.1:c.2921G>A (MSH6) | XP_011531100.1:p.Arg974Gln | |
| XM_011532799.1:c.2807G>A (MSH6) | XP_011531101.1:p.Arg936Gln | |
| XM_011532800.1:c.2807G>A (MSH6) | XP_011531102.1:p.Arg936Gln | |
| XM_024452819.1:c.3104G>A (MSH6) | XP_024308587.1:p.Arg1035Gln | |
| XM_024452820.1:c.2921G>A (MSH6) | XP_024308588.1:p.Arg974Gln | |
| XM_024452821.1:c.2807G>A (MSH6) | XP_024308589.1:p.Arg936Gln | |
| XM_024452822.1:c.2198G>A (MSH6) | XP_024308590.1:p.Arg733Gln | |
| NM_000179.3:c.3104G>A (MSH6) MANE Select | NP_000170.1:p.Arg1035Gln | |
| NM_001281492.2:c.2714G>A (MSH6) | NP_001268421.1:p.Arg905Gln | |
| NM_001281493.2:c.2198G>A (MSH6) | NP_001268422.1:p.Arg733Gln | |
| NM_001281494.2:c.2198G>A (MSH6) | NP_001268423.1:p.Arg733Gln |